ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828157082
Gene: AP5Z1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351787.1:p.Arg636His
CA4138456
NM_001364858.1:c.1907G>A